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Clinical Dysmorphology|March 6, 2023
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndromeBilge Geckinli, Ayberk Turkyilmaz, Ceren Alavanda, et al.Clinical Dysmorphology|July 14, 2020
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothersAnna Uhrova Meszarosova, Jana Lastuvkova, Ladislava Rennerova, et al.Clinical Dysmorphology|July 14, 2020
Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variantKadri KaraerClinical Dysmorphology|February 26, 2015
A clinical case report and literature review of the 3q29 microdeletion syndromeDevin M Cox, Merlin G ButlerClinical Dysmorphology|August 5, 1998
Clinical characteristics associated with dup17(q24q25.1) in a mosaic mother and two non-mosaic daughtersD Babovic-Vuksanovic, J A Westman, S M Jalal, et al.Clinical Dysmorphology|August 5, 1998
Pigmentary abnormalities in trisomy of chromosome 13T Pillay, W S Winship, P K RamdialClinical Dysmorphology|October 11, 2018
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IVPeriyasamy Radhakrishnan, Amita Moirangthem, Shalini S Nayak, et al.Clinical Dysmorphology|May 17, 2023
Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plusPurvi Majethia, Rhea Harish, Dhanya Lakshmi Narayanan, et al.Clinical Dysmorphology|February 27, 2024
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous populationAlBandary Albakheet, Duaa Almuallami, Rawan Almass, et al.Clinical Dysmorphology|May 13, 1999
The occurrence of Poland and Poland-Moebius syndromes in the same family: further evidence of their genetic componentM Larrandaburu, L Schüler, J A Ehlers, et al.Pageof 117